Canonical Allele Identifier: CA2201986760

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046240G= , CM000678.2:g.2046240G=	GRCh38
NC_000016.9:g.2096241G= , CM000678.1:g.2096241G=	GRCh37
NC_000016.8:g.2036242G=	NCBI36
NG_005895.1:g.1935G= , LRG_487:g.1935G=
NG_008412.1:g.6627C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.242C= MANE Select	ENSP00000498421.1:p.Pro81=
ENST00000651583.1:c.197C=	ENSP00000498821.1:p.Pro66=
ENST00000219066.5:c.266C=	ENSP00000219066.1:p.Pro89=
ENST00000561841.1:c.162C=
ENST00000566380.5:c.205C=
ENST00000568513.5:c.173+40C=
NM_002528.5:c.266C=	NP_002519.1:p.Pro89=
XM_011522505.1:c.266C=	XP_011520807.1:p.Pro89=
NM_001318193.1:c.266C=	NP_001305122.1:p.Pro89=
NM_001318194.1:c.24+40C=	NP_001305123.1:n.24+40C=
NM_002528.6:c.266C=	NP_002519.1:p.Pro89=
XM_017023253.1:c.266C=	XP_016878742.1:p.Pro89=
NM_001318193.2:c.242C=	NP_001305122.2:p.Pro81=
NM_002528.7:c.242C= MANE Select	NP_002519.2:p.Pro81=
NM_001318194.2:c.24+40C=	NP_001305123.1:n.24+40C=